@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_head
{
this:
np:hasAssertion
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_assertion
;
np:hasProvenance
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_provenance
;
np:hasPublicationInfo
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_assertion
a
np:Assertion
.
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_provenance
a
np:Provenance
.
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_assertion
{
miriam-gene:3229
a
ncit:C16612
.
lld:C0009081
a
ncit:C7057
.
dgn-gda:DGN4b75ad7ac0f5743c0134abfe1ef91e51
sio:SIO_000628
miriam-gene:3229
,
lld:C0009081
;
a
sio:SIO_001121
.
}
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_provenance
{
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_assertion
dcterms:description
"[Twelve rare copy number variants segregate with talipes equinovarus in multiplex pedigrees, and contain the developmentally expressed transcription factors and transcriptional regulators PITX1, TBX4, HOXC13, UTX, CHD (chromodomain protein)1, and RIPPLY2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:22892537
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP830939.RA-sl_UpRrca5waRcb8kuAduqtxVuoJTpPBG91b1VtP54130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:28+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}